Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov... See more...

Aliases for DEFB128 Gene

Aliases for DEFB128 Gene

  • Defensin Beta 128 2 3 5
  • DEFB-28 2 3 4
  • Defensin, Beta 128 2 4
  • Defensin, Beta 28 2 3
  • Beta-Defensin 128 3 4
  • Beta-Defensin 28 3 4
  • DEFB28 3 4
  • DEFB128 5
  • HBD-28 3

External Ids for DEFB128 Gene

Previous GeneCards Identifiers for DEFB128 Gene

  • GC20U990241
  • GC20M000117
  • GC20M000168

Summaries for DEFB128 Gene

Entrez Gene Summary for DEFB128 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB128 Gene

DEFB128 (Defensin Beta 128) is a Protein Coding gene. Diseases associated with DEFB128 include Dermatitis, Atopic, 2 and Leukodystrophy, Hypomyelinating, 2. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB127.

UniProtKB/Swiss-Prot Summary for DEFB128 Gene

Additional gene information for DEFB128 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB128 Gene

Genomics for DEFB128 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB128 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J000266 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.1 -77.2 -77214 1.4 RNF2 HNRNPL GATAD2A CTCF TEAD4 PRDM10 TFE3 RFX1 LEF1 SOX13 ENSG00000272874 FJ601684-266 TBC1D20 RBCK1 C20orf96 ZCCHC3 NRSN2-AS1 DEFB129 DEFB128 NRSN2
GH20J000227 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 11 -38.0 -37990 2.2 SPI1 NBN DEFB129 NONHSAG031076.2 DEFB132 DEFB128 NRSN2-AS1 C20orf96 ZCCHC3 DEFB126 piR-42694-095
GH20J000258 Enhancer 0.7 Ensembl 10.7 -69.7 -69708 2 CTCF REST CEBPA MGA ZNF316 MAFF SMC3 MAFK MAFG SP1 DEFB132 TBC1D20 DEFB129 C20orf96 ZCCHC3 ACTG1P3 DEFB128 FJ601684-266
GH20J000237 Enhancer 0.6 ENCODE 11 -48.1 -48058 1.3 MTA2 MTA1 IKZF2 HDAC1 EGR1 RUNX3 ZFHX2 JUNB SPI1 BATF DEFB128 NRSN2-AS1 C20orf96 ZCCHC3 NRSN2 DEFB129 NONHSAG031076.2 piR-42694-095 DEFB132
GH20J000157 Promoter 0.3 EPDnew 12 +32.3 32276 0.1 DEFB127 DEFB128 DEFB126
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB128 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB128

Top Transcription factor binding sites by QIAGEN in the DEFB128 gene promoter:
  • AREB6
  • FOXO4
  • HOXA9
  • HOXA9B
  • IRF-1
  • Meis-1
  • Meis-1b
  • Nkx3-1 v3
  • Nkx3-1 v4
  • TBP

Genomic Locations for DEFB128 Gene

Genomic Locations for DEFB128 Gene
chr20:187,853-189,711
(GRCh38/hg38)
Size:
1,859 bases
Orientation:
Minus strand
chr20:168,494-170,322
(GRCh37/hg19)
Size:
1,829 bases
Orientation:
Minus strand

Genomic View for DEFB128 Gene

Genes around DEFB128 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB128 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB128 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB128 Gene

Proteins for DEFB128 Gene

  • Protein details for DEFB128 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7B8-DB128_HUMAN
    Recommended name:
    Beta-defensin 128
    Protein Accession:
    Q7Z7B8
    Secondary Accessions:
    • B2RU29

    Protein attributes for DEFB128 Gene

    Size:
    93 amino acids
    Molecular mass:
    10650 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB128 Gene

Post-translational modifications for DEFB128 Gene

No Post-translational modifications

Other Protein References for DEFB128 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB128 Gene

Domains & Families for DEFB128 Gene

Gene Families for DEFB128 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB128 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB128 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 128 (DB128_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z7B8

UniProtKB/Swiss-Prot:

DB128_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB128: view

Function for DEFB128 Gene

Molecular function for DEFB128 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes From GWAS Catalog for DEFB128 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB128

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB128 Gene

Localization for DEFB128 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB128 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB128 gene
Compartment Confidence
extracellular 4
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DEFB128 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB128: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB128 Gene

Pathways & Interactions for DEFB128 Gene

PathCards logo

SuperPathways for DEFB128 Gene

genes like me logo Genes that share pathways with DEFB128: view

Pathways by source for DEFB128 Gene

Interacting Proteins for DEFB128 Gene

Gene Ontology (GO) - Biological Process for DEFB128 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0031640 killing of cells of other organism IDA 15625724
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response IEA --
GO:0050829 defense response to Gram-negative bacterium IDA 15625724
genes like me logo Genes that share ontologies with DEFB128: view

No data available for SIGNOR curated interactions for DEFB128 Gene

Drugs & Compounds for DEFB128 Gene

No Compound Related Data Available

Transcripts for DEFB128 Gene

mRNA/cDNA for DEFB128 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB128

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB128 Gene

No ASD Table

Relevant External Links for DEFB128 Gene

GeneLoc Exon Structure for
DEFB128

Expression for DEFB128 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB128 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB128

SOURCE GeneReport for Unigene cluster for DEFB128 Gene:

Hs.516818
genes like me logo Genes that share expression patterns with DEFB128: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB128 Gene

Orthologs for DEFB128 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB128 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia CBD128 31
  • 56 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb20 31
  • 39 (a)
OneToOne
Species where no ortholog for DEFB128 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DEFB128 Gene

ENSEMBL:
Gene Tree for DEFB128 (if available)
TreeFam:
Gene Tree for DEFB128 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB128: view image

Paralogs for DEFB128 Gene

(3) SIMAP similar genes for DEFB128 Gene using alignment to 1 proteins:

  • DB128_HUMAN
genes like me logo Genes that share paralogs with DEFB128: view

Variants for DEFB128 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB128 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs4813043 - p.Lys27Asn

Additional dbSNP identifiers (rs#s) for DEFB128 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB128 Gene

Variant ID Type Subtype PubMed ID
dgv4219n100 CNV gain 25217958
dgv4220n100 CNV gain 25217958
dgv65n68 CNV loss 17160897
dgv770e214 CNV gain 21293372
esv2751910 CNV loss 17911159
esv2763662 CNV gain+loss 21179565
nsv1059637 CNV loss 25217958
nsv1067190 CNV loss 25217958
nsv469544 CNV loss 16826518
nsv510776 CNV deletion 20534489
nsv585166 CNV loss 21841781

Variation tolerance for DEFB128 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB128 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB128

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB128 Gene

Disorders for DEFB128 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DEFB128 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dermatitis, atopic, 2
  • dermatitis, atopic
leukodystrophy, hypomyelinating, 2
  • hld2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DEFB128: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB128 Gene

Publications for DEFB128 Gene

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil AA … Zhang G (Physiological genomics 2005) 2 3
  2. Distribution of new human beta-defensin genes clustered on chromosome 20 in functionally different segments of epididymis. (PMID: 12620395) Rodríguez-Jiménez FJ … Motzkus D (Genomics 2003) 3 4
  3. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Danger-recognizing proteins, β-defensin-128 and histatin-3, as potential biomarkers of recurrent coronary events. (PMID: 28627688) Ghatge M … Vangala RK (International journal of molecular medicine 2017) 3

Products for DEFB128 Gene

  • Signalway ELISA kits for DEFB128

Sources for DEFB128 Gene